Research and Clinical Studies

Craniosynostosis Research

Our researchers are studying causes, surgical results and long-term outcomes for children with craniosynostosis.

The condition causes soft, fibrous seams (sutures) in the skull to close too soon. This changes the shape of the skull. It can increase pressure in the skull and hurt brain development.

The National Institutes of Health (NIH) funds much of our research on craniosynostosis.

Genetic Pathways That Cause Craniosynostosis

A study in the Cunningham lab aims to identify the changes in genes that cause craniosynostosis.
The work holds great promise for finding biological pathways that can be changed in order to treat and prevent craniosynostosis. A biological pathway is a series of actions in a cell that cause a change, such as turning genes on and off or creating a protein.

Measuring Outcomes After Craniofacial Surgery

A team lead by Dr. Richard Hopper is creating a searchable library of 3-D images of children before and after surgery for craniosynostosis.

This will allow the Craniofacial Center team to accurately measure changes in a child’s skull and face using advanced 3-D imaging. The data library will link images with patients’ medical records. Researchers and doctors will be able to see surgeries that have the best results for specific conditions.

How Craniosynostosis Affects Learning and Behavior

Researchers are looking at how craniosynostosis affects learning, attention and behavior. What we learn will help us provide the most effective care.

This study began by comparing babies with and without craniosynostosis that affects one suture in their skull. Researchers followed the children through grade school. Children with craniosynostosis tended to score slightly lower on tests than children without craniosynostosis.

In future studies, the team hopes to find out what makes it more likely that a child with craniosynostosis will have problems with development or learning and what will help prevent those problems.

Accurate Diagnosis of Metopic Craniosynostosis

Dr. Craig Birgfeld is studying how to improve diagnosis of patients with metopic craniosynostosis (MCS). The work will also help identify children who have ridging instead of fusion of their metopic suture. Those children do not need surgery.

Dr. Birgfeld’s team has identified facial features and findings on CT (computed tomography) scans that accurately diagnose MCS.

To guide doctors in making a diagnosis, the team created a tool with pictures. It is called the Phenotypic Assessment Tool for Metopic Craniosynostosis (PAT-MCS).

Midface Hypoplasia in Children With Craniosynostosis

A research team led by Dr. Timothy Cox is working with Dr. Anne Hing to identify and understand the genes that cause midface hypoplasia in children with craniosynostosis.

Midface hypoplasia causes the upper jaw, cheekbones and eye sockets to grow less than the rest of the face. This can lead to serious vision and breathing problems.

This project uses state-of-the-art gene sequencing technologies and animal studies. Understanding the causes of midfacial hypoplasia will improve how we care for children.

Relating Symptoms to Specific Mutations

Dr. Tara Wenger is studying gene changes related to specific symptoms and medical complications in children with craniosynostosis syndromes. Her goal is to use genetic testing as a tool to personalize care for these children.

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